Incidental Mutation 'R6755:Pramel52-ps'
ID 531000
Institutional Source Beutler Lab
Gene Symbol Pramel52-ps
Ensembl Gene ENSMUSG00000073497
Gene Name PRAME like 52, pseudogene
Synonyms AA792892
MMRRC Submission 044871-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6755 (G1)
Quality Score 206.009
Status Not validated
Chromosome 5
Chromosomal Location 94487609-94532938 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94529268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 13 (T13A)
Ref Sequence ENSEMBL: ENSMUSP00000143886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097477] [ENSMUST00000202253]
AlphaFold Q8C6S1
Predicted Effect probably benign
Transcript: ENSMUST00000097477
AA Change: T13A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000095085
Gene: ENSMUSG00000073497
AA Change: T13A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202253
AA Change: T13A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143886
Gene: ENSMUSG00000073497
AA Change: T13A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 88 276 5e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,475,994 (GRCm39) T1101M probably benign Het
4930433I11Rik T C 7: 40,643,734 (GRCm39) S468P probably damaging Het
Adam33 A G 2: 130,895,069 (GRCm39) V637A probably damaging Het
Adcy5 G A 16: 35,124,004 (GRCm39) V1228M possibly damaging Het
Ahi1 G T 10: 20,893,812 (GRCm39) V848F probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
B4galt6 T C 18: 20,822,386 (GRCm39) E264G probably benign Het
Bpifb4 A G 2: 153,799,658 (GRCm39) T556A probably damaging Het
Bptf A T 11: 106,938,082 (GRCm39) S64T probably benign Het
C3ar1 A G 6: 122,826,817 (GRCm39) S467P probably benign Het
Cables1 G T 18: 12,072,882 (GRCm39) S479I probably null Het
Cbl T C 9: 44,084,671 (GRCm39) I155V probably damaging Het
Cdh16 T C 8: 105,345,880 (GRCm39) D297G probably damaging Het
Cdk8 T A 5: 146,205,126 (GRCm39) H102Q probably damaging Het
Cpn2 A T 16: 30,079,149 (GRCm39) L184Q probably damaging Het
Ctso T A 3: 81,849,609 (GRCm39) H109Q probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drc1 A G 5: 30,512,490 (GRCm39) E299G probably damaging Het
Elp6 A G 9: 110,144,893 (GRCm39) E150G possibly damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbn2 A G 18: 58,246,405 (GRCm39) L499S possibly damaging Het
Fgf10 C A 13: 118,925,821 (GRCm39) A200D probably damaging Het
Fhad1 T C 4: 141,691,915 (GRCm39) E407G probably damaging Het
Hif1an T C 19: 44,556,891 (GRCm39) V232A probably damaging Het
Ift172 T A 5: 31,418,342 (GRCm39) K1214* probably null Het
Il20ra T C 10: 19,626,542 (GRCm39) Y189H probably benign Het
Isg20l2 T A 3: 87,838,996 (GRCm39) I69N probably benign Het
Kif11 A G 19: 37,398,199 (GRCm39) D675G probably benign Het
Klhdc7a T A 4: 139,693,786 (GRCm39) D387V possibly damaging Het
Lrrc4 T C 6: 28,831,292 (GRCm39) N108D probably damaging Het
Ltbp2 T A 12: 84,841,847 (GRCm39) E944V probably damaging Het
Magi1 C T 6: 93,685,158 (GRCm39) S740N probably damaging Het
Med26 A G 8: 73,249,677 (GRCm39) I474T probably damaging Het
Mgst1 T A 6: 138,124,770 (GRCm39) M68K probably damaging Het
Myh7 G A 14: 55,229,770 (GRCm39) A91V possibly damaging Het
Nhlrc2 G A 19: 56,580,216 (GRCm39) V450I probably benign Het
Nup160 T G 2: 90,530,800 (GRCm39) F486C probably damaging Het
Nup50l T C 6: 96,141,953 (GRCm39) T364A probably benign Het
Obscn A T 11: 58,994,152 (GRCm39) Y1602N probably damaging Het
Or52ae9 T A 7: 103,389,707 (GRCm39) T247S probably damaging Het
Or5ak4 C A 2: 85,162,142 (GRCm39) M33I probably benign Het
Otogl A T 10: 107,689,164 (GRCm39) Y955* probably null Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pianp T C 6: 124,976,347 (GRCm39) V52A probably benign Het
Plekhh2 T C 17: 84,899,013 (GRCm39) Y997H probably damaging Het
Plekhm1 G T 11: 103,278,069 (GRCm39) S342R possibly damaging Het
Poglut2 C T 1: 44,149,894 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,551,996 (GRCm39) V81E probably damaging Het
Ptafr A G 4: 132,306,657 (GRCm39) T16A probably benign Het
Ptpn23 A T 9: 110,218,855 (GRCm39) L445Q probably damaging Het
Rasa1 A T 13: 85,374,717 (GRCm39) F751L possibly damaging Het
Sap18 A C 14: 58,039,474 (GRCm39) D153A probably damaging Het
Slc38a11 C T 2: 65,194,235 (GRCm39) G10D probably benign Het
Snx32 T C 19: 5,560,372 (GRCm39) N10D probably benign Het
Sox6 T C 7: 115,261,677 (GRCm39) T180A probably damaging Het
Srrt T C 5: 137,301,192 (GRCm39) K78R probably damaging Het
Syce3 T C 15: 89,281,567 (GRCm39) D24G probably damaging Het
Taok3 T A 5: 117,344,732 (GRCm39) I153N probably damaging Het
Tesk1 A G 4: 43,445,991 (GRCm39) Q308R probably benign Het
Tm7sf3 A T 6: 146,511,471 (GRCm39) probably null Het
Tmbim6 T C 15: 99,300,034 (GRCm39) V50A probably benign Het
Tmem107 T C 11: 68,961,837 (GRCm39) V22A probably damaging Het
Ttc12 T C 9: 49,364,646 (GRCm39) I377V probably benign Het
Ufl1 T A 4: 25,262,316 (GRCm39) N310I probably damaging Het
Ush2a C A 1: 188,175,416 (GRCm39) N1171K possibly damaging Het
Utrn A T 10: 12,574,831 (GRCm39) V1032E probably benign Het
Other mutations in Pramel52-ps
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1985:Pramel52-ps UTSW 5 94,531,931 (GRCm39) missense probably benign 0.13
R4247:Pramel52-ps UTSW 5 94,531,446 (GRCm39) missense possibly damaging 0.93
R4607:Pramel52-ps UTSW 5 94,531,387 (GRCm39) missense probably benign 0.35
R6186:Pramel52-ps UTSW 5 94,531,835 (GRCm39) missense probably benign 0.28
R6585:Pramel52-ps UTSW 5 94,529,415 (GRCm39) missense probably benign
R6945:Pramel52-ps UTSW 5 94,531,490 (GRCm39) missense possibly damaging 0.57
R7352:Pramel52-ps UTSW 5 94,531,743 (GRCm39) missense probably damaging 1.00
R7960:Pramel52-ps UTSW 5 94,531,739 (GRCm39) missense probably benign 0.01
R8355:Pramel52-ps UTSW 5 94,531,772 (GRCm39) missense probably damaging 1.00
R8356:Pramel52-ps UTSW 5 94,531,703 (GRCm39) missense probably damaging 0.99
R8381:Pramel52-ps UTSW 5 94,531,881 (GRCm39) missense probably damaging 1.00
R8489:Pramel52-ps UTSW 5 94,531,551 (GRCm39) missense probably damaging 1.00
R8752:Pramel52-ps UTSW 5 94,529,354 (GRCm39) missense possibly damaging 0.63
R9101:Pramel52-ps UTSW 5 94,531,899 (GRCm39) missense probably damaging 1.00
R9577:Pramel52-ps UTSW 5 94,531,805 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGCTTTATGACTGTCATGGCAG -3'
(R):5'- GGTGAAACTCTCTTGTCAGTCTC -3'

Sequencing Primer
(F):5'- ACTGTCATGGCAGTAACTCAG -3'
(R):5'- ATGTCTACTCCATCTAGCAGAGC -3'
Posted On 2018-08-01